一例ABO亚型CisAB个体的分子遗传学分析  

Molecular analysis of an individual with CisAB phenotype

作　　者：李君[1] 曹立瀛[1] 侯金友[1] 邹红蕊 张慧[1] 张秀梅[1] Li Jun;Cao Liying;Hou Jinyou;Zou Hongrui;Zhang Hui;Zhang Xiumei(Department of Blood Transfusion,Kailuan General Hospital,Tangshan,Hebei 063000,China)

机构地区：[1]开滦总医院输血科,唐山063000

出　　处：《中华医学遗传学杂志》2020年第1期71-74,共4页Chinese Journal of Medical Genetics

摘　　要：目的研究1例ABO亚型的分子机制。方法先证者红细胞ABO表型鉴定采用常规血清学技术,ABO基因第6~7外显子序列采用PCR技术扩增并应用Sanger法双向进行测序分析。先证者ABO基因第6~7外显子单体型检测采用单链扩增测序技术。结果先证者红细胞与抗-A凝集强度4+、抗-A1不凝集,抗-B凝集强度3+,抗-H凝集强度4+;其血清与标准A细胞、O细胞和自身细胞不凝集,与标准B细胞在4℃呈现弱凝集,先证者血清学特性符合ABO亚型。ABO基因第6~7外显子双链测序分析显示先证者261 G/del、297AG、526CG、657CT、703GA、803GC、930GA杂合,796CC纯合。单体型测序显示先证者一个等位基因为ABO*O.01.01,另一个等位基因与ABO*B.01相比仅c.796A>C变异,导致266位蛋氨酸变成亮氨酸;比较国际输血协会ABO等位基因已命名的数据,发现该变异属于新等位基因。结论ABO*B.01等位基因c.796 A>C变异,导致266位蛋氨酸变成亮氨酸,可引起CisAB亚型。准确鉴定ABO亚型应结合血清学技术和分子生物学技术。Objective To explore the molecular basis for an individual with ABO subtype.Methods The ABO phenotype of the proband was determined by convention serological testing.Exons 6 and 7 of the ABO gene were subjected to PCR amplification and bi-directional Sanger sequencing.Haplotypes for exons 6 and 7 of the proband was determined using an ABO haplotype-specific amplification and sequencing technique.Results Red blood cells of the proband showed a 4+agglutination strength with anti-A or anti-H,no agglutination reaction with anti-A1,and a 3+agglutination strength with anti-B.His serum had no reaction with standard A cells,O cells or self cells,but was weakly reactive with B cells at 4℃.The proband was assigned as an ABO subtype based on his serological features.Bi-directional sequencing of the ABO gene revealed heterozygosity of 261 G/del,297AG,526CG,657CT,703GA,803GC and 930GA,and homozygosity of 796CC in the proband.Haplotype-specific amplification and sequencing showed that one of his alleles was ABO*O.01.01,and another contained a c.796A>C variation compared with the ABO*B.01 allele,which led to replacement of methionine by leucine at position 266.Searching the ABO allele database of International Society of Blood Transfusion suggested the variation to be a novel one.Conclusion The c.796A>C variation in the ABO*B.01 allele probably underlies the CisAB subtype.Accurate identification of the ABO subtype requires combined use of serological method and genetic testing.

关 键 词：ABO血型系统 CisAB亚型 测序分析 变异 

分 类 号：R4[医药卫生—临床医学]